Showing 1 - 20 results of 29 for search '"Lynch syndrome"', query time: 0.07s Refine Results
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    The Identification of Lynch Syndrome in British Columbia by Carol M Cremin, Linlea Armstrong, Sharlene Gill, David Huntsman, Chris Bajdik

    Published 2009-01-01
    “…OBJECTIVE: To determine the prevalence of Lynch syndrome mutations in a Canadian hereditary cancer clinic population, and to determine the effectiveness of the program’s referral criteria and testing algorithm.…”
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    Novel Implications in Molecular Diagnosis of Lynch Syndrome by Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo

    Published 2017-01-01
    “…About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. …”
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    Development of a Semiconductor Sequencing-based Panel for Screening Individuals with Lynch Syndrome by Ryia-Illani Mohd Yunos, Nurul-Syakima Ab Mutalib, Janice Khor Sheau Sean, Sazuita Saidin, Mohd Ridhwan Abd Razak, Isa Md. Rose, Ismail Sagap, Luqman Mazlan, Rahman Jamal

    Published 2022-07-01
    “… Lynch syndrome is a genetic disorder associated with mutations in mismatch repair (MMR) genes that are linked to the development of colorectal cancer. …”
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    Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador by Gemma Llargués-Sistac, Laia Bonjoch, Jenifer Muñoz, Xavier Domínguez-Rovira, Teresa Ocaña, Maria Isabel Alvarez-Mora, Celia Badenas, Anna Esteve-Codina, Carlos Reyes-Silva, Gabriela Jaramillo-Koupermann, Maria Teresa Rodrigo, Sandra López-Prades, Miriam Cuatrecasas, Antoni Castells, Francesc Balaguer, Leticia Moreira, Guerau Fernandez, Sergi Castellví-Bel

    Published 2025-01-01
    “…Abstract Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of hereditary CRC and it is caused by germline defects in the DNA-mismatch repair (MMR) pathway. …”
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    Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome by Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura

    Published 2024-09-01
    “…Abstract Loss-of-function germline variants of MLH1 cause Lynch syndrome. Here, we present the case of a 43-year-old male patient diagnosed with cecal and transverse colon adenocarcinomas. …”
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    Current Hypotheses on How Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients by Kristen M. Drescher, Poonam Sharma, Henry T. Lynch

    Published 2010-01-01
    “…High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS) colorectal cancer. …”
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    Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome by Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz

    Published 2025-01-01
    “…Abstract Multigene panel tests (MGPTs) revolutionized the diagnosis of Lynch syndrome (LS), however noncoding pathogenic variants (PVs) can only be detected by complementary methods including whole genome sequencing (WGS). …”
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    Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome by Juan M. Marqués-Lespier, Yaritza Diaz-Algorri, Maria Gonzalez-Pons, Marcia Cruz-Correa

    Published 2014-01-01
    “…Familial CRC accounts for 10–15% of the total CRC cases, while Lynch syndrome accounts for approximately 2–4% of cases. …”
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    Implementing recommendations for routine mismatch repair (MMR) immunohistochemistry (IHC) testing of endometrial cancer and subsequent patient management by Jo Morrison, Mohamed Shawky, Maria Murrey

    Published 2025-01-01
    “…Lynch syndrome is associated with an increased risk of cancer, including endometrial cancer. …”
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    Hereditary colorectal cancer: genetics and screening diagnostics by O. I. Kit, D. I. Vodolazhsky, Yu. A. Gevorkyan, N. V. Soldatkina, F. N. Grechkin, M. A. Kozhushko, I. Yu. Yefimova

    Published 2018-08-01
    “…The current review presents clinical and genetic features of two basic colorectal hereditary syndromes - Lynch syndrome and family adenomatous polyposis. Conclusion. …”
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    Article